Abstract

Ahmet Sert*, Dursun Odabas, Bahar Demir and Cengizhan Kılıcarslan

Ataxia-telangiectasia (AT) is a rare autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia, telangiectasies, immune defects, and a predisposition to malignancy. Patients present in early childhood with progressive cerebellar ataxia and later develop conjunctival telangiectases, other progressive neurologic degeneration, sinopulmonary infection and malignancies. Underdiagnosis or diagnostic delay of AT and its pulmonary complications contribute to morbidity and early mortality. We reported a patient who, due to a delay in diagnosis of AT, presented with bronchiectasis at the age of seventeen. To reduce the morbidity associated with AT, there needs to be greater awareness of the respiratory complications. Early management and monitoring lung function can minimize pulmonary damage.